Fas gene promoter polymorphisms in primary Sjögren’s syndrome

Background: Fas mediated apoptosis may be important in the pathogenesis of primary Sjögren’s syndrome (pSS). Objective: To examine genetic variation in the promoter region of the Fas gene in pSS. Methods: Two single nucleotide polymorphisms at positions −1377(G/A) and −670(G/A) in the Fas gene promo...

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Veröffentlicht in:Annals of the rheumatic diseases 2004-01, Vol.63 (1), p.98-101
Hauptverfasser: Mullighan, C G, Heatley, S, Lester, S, Rischmueller, M, Gordon, T P, Bardy, P G
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container_end_page 101
container_issue 1
container_start_page 98
container_title Annals of the rheumatic diseases
container_volume 63
creator Mullighan, C G
Heatley, S
Lester, S
Rischmueller, M
Gordon, T P
Bardy, P G
description Background: Fas mediated apoptosis may be important in the pathogenesis of primary Sjögren’s syndrome (pSS). Objective: To examine genetic variation in the promoter region of the Fas gene in pSS. Methods: Two single nucleotide polymorphisms at positions −1377(G/A) and −670(G/A) in the Fas gene promoter were genotyped by PCR­SSP in 101 patients with pSS and 108 Caucasoid controls. Results: No significant differences in allele or genotype frequencies were detected between the patients with pSS and controls. However, significant associations were observed with Ro/La autoantibody negative patients, who display milder and later onset disease. The −670A allele was more frequent in Ro/La autoantibody negative patients than in Ro/La autoantibody positive patients (p = 0.04). Conclusion: This study does not confirm an earlier report of an association between pSS and the Fas promoter −670G allele. However, the results suggest that genetically determined variability in Fas expression may modulate Ro/La autoantibody responses in patients with pSS.
doi_str_mv 10.1136/ard.2003.006056
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Objective: To examine genetic variation in the promoter region of the Fas gene in pSS. Methods: Two single nucleotide polymorphisms at positions −1377(G/A) and −670(G/A) in the Fas gene promoter were genotyped by PCR­SSP in 101 patients with pSS and 108 Caucasoid controls. Results: No significant differences in allele or genotype frequencies were detected between the patients with pSS and controls. However, significant associations were observed with Ro/La autoantibody negative patients, who display milder and later onset disease. The −670A allele was more frequent in Ro/La autoantibody negative patients than in Ro/La autoantibody positive patients (p = 0.04). Conclusion: This study does not confirm an earlier report of an association between pSS and the Fas promoter −670G allele. However, the results suggest that genetically determined variability in Fas expression may modulate Ro/La autoantibody responses in patients with pSS.</description><identifier>ISSN: 0003-4967</identifier><identifier>EISSN: 1468-2060</identifier><identifier>DOI: 10.1136/ard.2003.006056</identifier><identifier>PMID: 14672901</identifier><identifier>CODEN: ARDIAO</identifier><language>eng</language><publisher>England: BMJ Publishing Group Ltd and European League Against Rheumatism</publisher><subject>Antibodies, Antinuclear - blood ; Apoptosis ; CIE ; Concise Report ; counterimmunoelectrophoresis ; Disease ; ELISA ; enzyme linked immunosorbent assay ; Exocrine glands ; Fas ; fas Receptor - genetics ; Gangrene ; Gene Frequency ; Genes ; Genotype ; Haplotypes ; Humans ; Lupus ; Pathogenesis ; Polymorphism ; Polymorphism, Genetic ; primary Sjögren’s syndrome ; Promoter Regions, Genetic - genetics ; pSS ; Rodents ; Sjogren's Syndrome - genetics ; Sjogren's Syndrome - immunology ; Sjögren’s syndrome ; Studies ; Thermal cycling ; Tumor necrosis factor-TNF</subject><ispartof>Annals of the rheumatic diseases, 2004-01, Vol.63 (1), p.98-101</ispartof><rights>Copyright 2004 by Annals of the Rheumatic Diseases</rights><rights>COPYRIGHT 2004 BMJ Publishing Group Ltd.</rights><rights>Copyright: 2004 Copyright 2004 by Annals of the Rheumatic Diseases</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b567t-af873395443fe698d1174e6f1f4f49e91976a26e6efbe1235128205d9b1d29ac3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1754724/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1754724/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,315,729,782,786,887,27931,27932,53798,53800</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/14672901$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Mullighan, C G</creatorcontrib><creatorcontrib>Heatley, S</creatorcontrib><creatorcontrib>Lester, S</creatorcontrib><creatorcontrib>Rischmueller, M</creatorcontrib><creatorcontrib>Gordon, T P</creatorcontrib><creatorcontrib>Bardy, P G</creatorcontrib><title>Fas gene promoter polymorphisms in primary Sjögren’s syndrome</title><title>Annals of the rheumatic diseases</title><addtitle>Ann Rheum Dis</addtitle><description>Background: Fas mediated apoptosis may be important in the pathogenesis of primary Sjögren’s syndrome (pSS). Objective: To examine genetic variation in the promoter region of the Fas gene in pSS. Methods: Two single nucleotide polymorphisms at positions −1377(G/A) and −670(G/A) in the Fas gene promoter were genotyped by PCR­SSP in 101 patients with pSS and 108 Caucasoid controls. Results: No significant differences in allele or genotype frequencies were detected between the patients with pSS and controls. However, significant associations were observed with Ro/La autoantibody negative patients, who display milder and later onset disease. The −670A allele was more frequent in Ro/La autoantibody negative patients than in Ro/La autoantibody positive patients (p = 0.04). Conclusion: This study does not confirm an earlier report of an association between pSS and the Fas promoter −670G allele. 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Objective: To examine genetic variation in the promoter region of the Fas gene in pSS. Methods: Two single nucleotide polymorphisms at positions −1377(G/A) and −670(G/A) in the Fas gene promoter were genotyped by PCR­SSP in 101 patients with pSS and 108 Caucasoid controls. Results: No significant differences in allele or genotype frequencies were detected between the patients with pSS and controls. However, significant associations were observed with Ro/La autoantibody negative patients, who display milder and later onset disease. The −670A allele was more frequent in Ro/La autoantibody negative patients than in Ro/La autoantibody positive patients (p = 0.04). Conclusion: This study does not confirm an earlier report of an association between pSS and the Fas promoter −670G allele. 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subjects Antibodies, Antinuclear - blood
Apoptosis
CIE
Concise Report
counterimmunoelectrophoresis
Disease
ELISA
enzyme linked immunosorbent assay
Exocrine glands
Fas
fas Receptor - genetics
Gangrene
Gene Frequency
Genes
Genotype
Haplotypes
Humans
Lupus
Pathogenesis
Polymorphism
Polymorphism, Genetic
primary Sjögren’s syndrome
Promoter Regions, Genetic - genetics
pSS
Rodents
Sjogren's Syndrome - genetics
Sjogren's Syndrome - immunology
Sjögren’s syndrome
Studies
Thermal cycling
Tumor necrosis factor-TNF
title Fas gene promoter polymorphisms in primary Sjögren’s syndrome
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